Results 281 to 290 of about 2,726,696 (323)

Inborn errors of immunity and somatic variant phenocopies disrupting human JAK-STAT signaling.

Journal of Allergy and Clinical Immunology
S. Samra, Jenna R. E. Bergerson, Alexandra F. Freeman, S. Turvey   +3 more
semanticscholar   +1 more source

Novel CTSA Variant Identified in a Thai Family With Late‐Infantile Galactosialidosis

Annals of Human Genetics, Volume 89, Issue 2-3, Page 126-131, May 2025.
ABSTRACT Galactosialidosis (GS) is a rare lysosomal storage disease (LSD) with variable onset caused by a defect in protective protein/cathepsin A (PPCA) encoded by the CTSA gene. The late‐infantile onset is characterized by developmental delay, visceromegaly, coarse facies, and cherry‐red macula.
Lukana Ngiwsara, Dhachdanai Dhachpramuk, Phannee Sawangareetrakul, Sherry Vongphit, Punchama Pacharn, Jisnuson Svasti, Nithiwat Vatanavicharn   +6 more
wiley   +1 more source

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

Relevance of Recent Thymic Emigrants Following Allogeneic Hematopoietic Cell Transplantation for Pediatric Patients with Inborn Errors of Immunity. [PDF]

Transplant Cell Ther
Drozdov D, Luo X, Marsh RA, Abraham RS, Ebens CL.   +4 more
europepmc   +1 more source

Evaluating the Causal Relationship Between Human Blood Metabolites and the Susceptibility to Alopecia Areata

Journal of Cosmetic Dermatology, Volume 24, Issue 5, May 2025.
ABSTRACT Background Alopecia areata, a common autoimmune disease, is not fully understood in terms of its cause. However, research suggests that an imbalance in specific blood metabolites may trigger immune system dysfunction, leading to an attack on hair follicles and ultimately resulting in alopecia areata.
Xiaoli Lei, Yi Qu, Jiaxi Huang
wiley   +1 more source

Dietary intakes and nutritional issues in inborn errors of immunity: a systematic review. [PDF]

Front Immunol
Freer M, Bhatia R, Preece K, Pursey KM.
europepmc   +1 more source

Delayed villous maturation with and without fetal demise: A case report of three successive pregnancies

Journal of Obstetrics and Gynaecology Research, Volume 51, Issue 5, May 2025.
Abstract This case study examined three subsequent pregnancies with delayed villous maturation (DVM) resulting in infants either large for gestational age (LGA) or appropriate for gestational age. A perinatal pathologist histopathologically reviewed the placentas using the Amsterdam Consensus Criteria.
M. C. Marijnen, W. Ganzevoort, S. J. Gordijn, L. E. van der Meeren   +3 more
wiley   +1 more source

Association Between Diet Type and Owner‐Reported Health Conditions in Dogs in the Dog Aging Project

Journal of Veterinary Internal Medicine, Volume 39, Issue 3, May/June 2025.
ABSTRACT Background Alternative dog diets, such as home‐cooked and raw, have grown in popularity. Claims regarding health benefits for these diets have limited supporting evidence. Objectives To evaluate whether feeding home‐cooked, commercial raw, or homemade raw diets is associated with health conditions compared to extruded diets.
Alexandra Varela Ortiz, Ingrid Luo, Janice O'Brien, Maryanne Murphy, Angela Witzel Rollins, Matt Kaeberlein, Dog Aging Project Consortium, Audrey Ruple, Kathleen F. Kerr, M. Katherine Tolbert   +9 more
wiley   +1 more source

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks. [PDF]

Front Immunol
Miguel Berenguel L, Gianelli C, Matas Pérez E, Del Rosal T, Méndez Echevarría A, Robles Marhuenda Á, Feito Rodríguez M, Caballero Molina MT, Magallares García L, Sánchez Garrido B, Hita Díaz S, Allende Martínez L, Nozal Aranda P, Cámara Hijón C, López Granados E, Rodríguez Pena R, Bravo García-Morato M.   +16 more
europepmc   +1 more source